Clinical haemochromatosis in HFE mutation carriers. av Cox, T, Rochette, J, Camaschella, C, Walker, A, Robson, K

Geography of HFE C282Y and H63D mutations. av Merryweather-Clarke, A, Pointon, J, Jouanolle, A, Rochette, J, Robson, K

Factors influencing disease phenotype and penetrance in HFE haemochromatosis. av Rochette, J, Le Gac, G, Lassoued, K, Férec, C, Robson, K

Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl. av Aguilar-Martinez, P, Lok, C, Cunat, S, Cadet, E, Robson, K, Rochette, J

Methionine is converted to aspartate by a novel post-translational mechanism in hemoglobin av Rees, D, Rochette, J, Green, B, Schofield, C, Ohba, Y, Clegg, J

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. av Szepetowski, P, Rochette, J, Berquin, P, Piussan, C, Lathrop, G, Monaco, A

Infantile benign convulsions and choreoathetosis: the ICCA syndrome av Rochette, J, Szepetowski, P, Berquin, P, Dolhem, P, Mathieu, M, Monaco, A, Piussan, C

Familiar infantile convulsions and paroxysmal choreoathetosis (ICCA): a new neurological syndrome linked to the pericentromeric region of human chromosome 16. av Szepetowski, P, Rochette, J, Berquin, P, Dolhem, P, Piussan, C, Lathrop, G, Monaco, A

Early biochemical onset juvenile haemochromatosis in 5year-old girl due to a novel combination of hemojuvelin G320V/R176C mutations av Aguilar-Martinez, P, Lok, C, Cunat, S, Cadet, E, Epeirier, J, Robson, K, Rochette, J

A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient. av Pointon, J, Lok, C, Shearman, J, Suckling, R, Rochette, J, Merryweather-Clarke, A, Robson, K

Recent advances in understanding haemochromatosis: a transition state. av Robson, K, Merryweather-Clarke, A, Cadet, E, Viprakasit, V, Zaahl, MG, Pointon, J, Weatherall, D, Rochette, J

Linkage of benign familial infantile convulsions to the ICCA region on chromosome 16. av Szepetowski, P, Pavek, S, Caraballo, R, Gastaldi, M, Faure, A, Monaco, A, Fejerman, N, Rochette, J, Lemainque, A, Lathrop, G

Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. av Flint, J, Rochette, J, Craddock, C, Dodé, C, Vignes, B, Horsley, S, Kearney, L, Buckle, V, Ayyub, H, Higgs, D

A novel silent posttranslational mechanism converts methionine to aspartate in hemoglobin Bristol (beta 67[E11] Val-Met->Asp). av Rees, D, Rochette, J, Schofield, C, Green, B, Morris, M, Parker, N, Sasaki, H, Tanaka, A, Ohba, Y, Clegg, J

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. av Caraballo, R, Pavek, S, Lemainque, A, Gastaldi, M, Echenne, B, Motte, J, Genton, P, Cersósimo, R, Humbertclaude, V, Fejerman, N, Monaco, A, Lathrop, MG, Rochette, J, Szepetowski, P

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. av Merryweather-Clarke, A, Cadet, E, Bomford, A, Capron, D, Viprakasit, V, Miller, A, McHugh, P, Chapman, R, Pointon, J, Wimhurst, V, Livesey, K, Tanphaichitr, V, Rochette, J, Robson, K

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading. av Livesey, K, Wimhurst, V, Carter, K, Worwood, M, Cadet, E, Rochette, J, Roberts, A, Pointon, J, Merryweather-Clarke, A, Bassett, M, Jouanolle, A, Mosser, A, David, V, Poulton, J, Robson, K

A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis. av Cadet, E, Capron, D, Perez, A, Crépin, SN, Arlot, S, Ducroix, J, Dautréaux, M, Fardellone, P, Leflon, P, Merryweather-Clarke, A, Livesey, K, Pointon, J, Rose, P, Harcourt, J, Emery, J, Sueur, J, Feyt, R, Robson, K, Rochette, J

Diagnosis and management of haemochromatosis since the discovery of the HFE gene: A European experience av Robson, K, Merryweather-Clark, A, Pointon, J, Shearman, J, Halsall, D, Kelly, A, Cox, T, Rosenberg, WM, Howell, M, Eccles, D, Patch, C, Fowler, A, Wallace, D, Camaschella, C, Roetto, A, Zecchina, G, De Gobbi, M, Gasparini, P, Cadet, E, Vandwalle, J, Capron, D, Rochette, J, Borot, N, Demangel, C, Dery, R